AutismKB 2.0

Annotation Detail for BTBD6


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Basic Information Top
Gene Symbol:BTBD6 ( BDPL )
Gene Full Name: BTB (POZ) domain containing 6
Band: 14q32.33
Quick LinksEntrez ID:90135; OMIM: NA; Uniprot ID:BTBD6_HUMAN; ENSEMBL ID: ENSG00000184887; HGNC ID: 19897
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of BTBD6 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of BTBD6 mRNAdecreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7315322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 13.0816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 13.0816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.4511748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.6619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.6612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6018850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2615340226 12621046 8697196 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema pirinixic acid 8.4112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.4111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.539294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005234 Fatty Liver pirinixic acid 3.3120131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5510048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006529 Hepatomegaly pirinixic acid 10.9416221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.9415340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.1215340226 16354765 8697196 18606429 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2412878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.7316377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811399792 11896295 11222880 11118676
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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